Robinow syndrome

Last revised by Frank Gaillard on 14 May 2024

Robinow syndrome is a rare heterogeneous genetic disorder with at least two distinct forms.

Fetal face syndrome and Robinow-Silverman syndrome are the other synonyms for this genetic disorder. Formerly it was known as costovertebral segmentation defect with mesomelia 8.

The exact prevalence of the disease is unknown. However, fewer than 80 families with autosomal dominant Robinow syndrome have been described in literature 9.

The syndrome can affect several systems, including:

Both autosomal dominant and autosomal recessive forms exist.

The autosomal recessive form of the disorder has been linked to mutation in the ROR2 gene on position 9 of the long arm of chromosome 9 that results in lack of ROR2 protein which is responsible for formation of heart, skeleton and genitals. The autosomal dominant form is due to mutation in the WNT5A gene or DVL1 gene.

Some people with Robinow syndrome are without above mentioned gene mutation and cause for the condition is idiopathic.

It was first described in 1969 by the geneticist Meinhard Robinow 2 (and his colleagues).

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